Canonical Allele Identifier: CA2797241934
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846509T>C , CM000674.2:g.102846509T>C GRCh38
NC_000012.11:g.103240287T>C , CM000674.1:g.103240287T>C GRCh37
NC_000012.10:g.101764417T>C NCBI36
NG_008690.1:g.76094A>G
NG_008690.2:g.116902A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+386A>G MANE Select ENSP00000448059.1:n.969+386A>G
ENST00000307000.7:c.954+386A>G ENSP00000303500.2:n.954+386A>G
ENST00000549247.6:n.728+386A>G
ENST00000551114.2:n.631+386A>G
ENST00000553106.5:c.969+386A>G ENSP00000448059.1:n.969+386A>G
ENST00000635477.1:c.74-2078A>G
ENST00000635528.1:n.484+386A>G
NM_000277.1:c.969+386A>G NP_000268.1:n.969+386A>G
XM_011538422.1:c.913-2078A>G XP_011536724.1:n.913-2078A>G
NM_000277.2:c.969+386A>G NP_000268.1:n.969+386A>G
NM_001354304.1:c.969+386A>G NP_001341233.1:n.969+386A>G
NM_000277.3:c.969+386A>G MANE Select NP_000268.1:n.969+386A>G
NM_001354304.2:c.969+386A>G NP_001341233.1:n.969+386A>G
Search 100 bp 5'
Search 100 bp 3'